Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000567182 | SCV000667606 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-09-07 | criteria provided, single submitter | clinical testing | The c.5603_5604insCGA variant (also known as p.D1871dup), located in coding exon 15 of the APC gene, results from an in-frame CGA insertion at nucleotide positions 5603 to 5604. This results in the insertion of an extra aspartic acid residue between codons 1871 and 1871. This amino acid region is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV003744551 | SCV003231210 | uncertain significance | Familial adenomatous polyposis 1 | 2022-09-03 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This variant, c.5603_5604insCGA, results in the insertion of 1 amino acid(s) of the APC protein (p.Asp1871dup), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with APC-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 482382). |